ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.586+5G>A (rs1060500284)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472016 SCV000542049 likely pathogenic Neurofibromatosis, type 1 2016-12-26 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has been reported in the literature in individuals affected with Neurofibromatosis Type 1 (NF1) (PMID: 10607834, 18546366) Experimental studies have shown that this variant causes skipping of exon 5, which is likely to produce a truncated protein product (PMID: 10607834, 18546366, 22617876). This variant is also known as IVS4b+5G>A in the literature. In summary, this variant is an intronic change that has been seen in affected individuals and results in exon skipping. This evidence indicates that the variant is pathogenic, but additional clinical and/or functional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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